Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients in acute respiratory distress require rapid assessment of the cause of dyspnea. We have observed that many of those patients who are in congestive heart failure (CHF) exhibit rounding of the abdominal cross-section during expiration. We sought to evaluate the diagnostic utility of this breathing pattern in dyspneic patients presenting to an emergency department. Twenty-six subjects with dyspnea due to a variety of conditions were recruited from the emergency department at Beth Israel Deaconess Medical Center. Subjects ranged in age from 21 to 94 years and 81% were female. We measured variation in the anteroposterior and transverse diameters of the rib cage and abdomen using respiratory magnetometers and determined phase of respiration with a pneumotachometer. Investigators blinded to the subjects' identities and diagnoses interpreted measurements as indicating normal respiratory movement without expiratory abdominal rounding, slight expiratory rounding, or pronounced expiratory rounding. The likely cause of dyspnea was determined from discharge diagnoses in the medical record. Expiratory rounding was observed in 12/14 subjects with CHF and 5/12 subjects without CHF (p = 0.0186), and pronounced expiratory rounding was present in 11/14 patients with CHF and 2/12 patients without CHF (p = 0.0016). Test characteristics for the association of CHF with pronounced expiratory rounding were sensitivity 79%, specificity 83%, and predictive accuracy 81%. In patients with acute respiratory distress, expiratory abdominal rounding suggests CHF as the primary cause of dyspnea; a greater degree of rounding suggests a greater likelihood of CHF. The clinical utility of this diagnostic sign remains to be determined in a prospective study.
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PMID:Expiratory abdominal rounding in acute dyspnea suggests congestive heart failure. 1709 81

Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cases have heterozygous de novo mutations in the coding region of the transcription factor gene SOX9 (SRY-related high-mobility group [HMG] box 9) in chromosome 17q. Here, we report a novel mutation of SOX9 in a female neonate with CD with autosomal sex reversal. Respiratory distress and cyanosis were noted at birth, and endotracheal intubation with mechanical ventilation was performed due to respiratory failure. The presenting phenotypes included dysmorphic face with macrocephaly, prominent forehead, low nasal bridge, cleft palate and micrognathia. Skeletal deformities characteristic of CD were observed, including narrow thoracic cage, hypoplastic scapulae, scoliosis and short limbs with anterolateral femoral and tibial bowing. The karyotype was 46,XY despite female external genitalia. SOX9 gene analysis revealed frameshift mutation (at nucleotide position 1095G-->AT) in the open reading frame, resulting in a frameshift with 211 new amino acids.
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PMID:Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. 1718 44

A 32-year-old female underwent laparoscopic salpingectomy of an ectopic (third) pregnancy under general anaesthesia, at approximately six weeks' amenorrhoea. She developed severe respiratory distress after extubation and died on the second postoperative day. It appears that she had a history of a mild, persistent productive cough for a period of about a month prior to the operation that was attributed to an upper respiratory tract infection. Autopsy demonstrated the presence of a large mediastinal tumour, whose existence was apparently unsuspected preoperatively, encasing the ascending thoracic aorta, aortic arch and the proximal segments of the brachiocephalic and subclavian arteries, and causing extrinsic airway compression. Subsequent microscopic examination showed histological and immunohistochemical features of a mediastinal large B-cell lymphoma. It is thought that the mechanical effects exerted by the advanced mediastinal tumour upon the airways and the thoracic cage, coupled with the pathophysiological effects of general anaesthesia on respiratory movement and airway patency, had led to the patient's unfortunate demise in early pregnancy.
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PMID:Post-anaesthetic maternal death in a patient with mediastinal large B-cell lymphoma: a case report. 1734 95

Mesenchymal hamartoma of the chest wall is a very rare, benign tumour with distinct clinical, radiological and histopathologic characteristics. The lesion develops during foetal life, and is present at or shortly after birth with an extrapleural mass arising from the rib cage with or without respiratory distress and marked rib deformity. Several imaging techniques have been used for diagnosis, but a definitive diagnosis is established only by histopathological examination. Such lesions are composed of a varying admixture of hyaline cartilage that has features resembling growth plate cartilage, along with fascicles of spindle cells, woven bone and hemorrhagic cysts. Accurate diagnosis of mesenchymal hamartoma is important since many chest wall masses in children are malignant. We report a case of mesenchymal hamartoma of the left posterior chest wall surgically resected in an infant who was found to have a palpable mass at birth. Two years after surgery, the patient is alive and well, with no evidence of recurrence.
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PMID:Mesenchymal hamartoma of the chest wall in an infant. 1841 38

Asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive form of chondrodysplasia characterized by short ribs. Respiratory failure is due to the reduced volume and complete immobility of the thoracic cage. There is no consensus on the treatment of this restrictive pulmonary disease. Surgical attempts to enlarge the thoracic cage are disappointing. We report the cases of nine children with ATD treated by periodic respiratory hyperinsufflation. Their clinical outcome was related to the severity of their respiratory distress and their age at the beginning of this treatment. It is possible to use periodic hyperinsufflation very early after birth to prevent secondary respiratory failure. Periodic insufflation can also be used to treat older children with severe restrictive respiratory insufficiency requiring tracheostomy and endotracheal management. This treatment promotes alveolar multiplication and thoracic growth. Four children had laboratory and/or clinical evidence of hepatic dysfunction that improved on ursodeoxycholic acid therapy. Three children who had muscle weakness at birth improved during childhood.
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PMID:[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation]. 1844 62

The intrathoracic (or substernal) goiter is more often benign; but it can be malignant in 2-22% of patients. There is history of prior thyroid surgery in 10% to more than 30% of patients. Intrathoracic goiters cause adjacent structure compression more frequently than the cervical goiters, due to the limited space of the thoracic cage. Compression of trachea, oesophagus, vascular and neural structures may cause dyspnoea, dysphagia, superior vena cava syndrome, subclavian vein thrombosis, hoarseness, and Horner's syndrome. There is usually progressive deterioration, but acute exacerbation may occur. The presence of a thoracic goiter (>50% of the mass below the thoracic inlet) is per se an indication for resection. Tracheal compression by (cervical or thoracic) goiter is also an indication for resection; early tracheal decompression is recommended particularly in symptomatic patients. In severe respiratory distress, intubation and semi-urgent operation may be required. With early intervention, most intrathoracic goiters can be removed through a cervical approach, while tracheomalacia is avoided. We hereby present successful and uncomplicated total thyroidectomy, through a median sternotomy, of a benign, gigantic, bilateral, retrovascular, posterior mediastinal, intrathoracic goiter, encircling the trachea, and causing severe respiratory distress in a 63 year old man with history of previous subtotal thyroidectomy.
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PMID:Resection of a giant bilateral retrovascular intrathoracic goiter causing severe upper airway obstruction, 2 years after subtotal thyroidectomy: a case report and review of the literature. 2330 40

Introduction. Pneumoscrotum is a rare clinical entity. It presents with swollen scrotal sac and sometimes with palpable crepitus. It has many etiologies. One of them is due to blunt trauma of the thoracic cage, causing pneumothorax and/or pneumomediastinum. Case Presentation. We report the case of an 82-year-old male who was transferred to the Emergency Department with signs of respiratory distress after a blunt chest trauma. A CT scan was obtained, and bilateral pneumothoraces with four broken ribs were disclosed. Subcutaneous emphysema expanding from the eyelids to the scrotum was observed, and a chest tube was inserted on the right side with immediate improvement of the vital signs of the patient. Discussion. Pneumoscrotum has three major etiologies: (a) local introduction of air or infection from gas-producing bacteria, (b) pneumoperitoneum, and (c) air accumulation from lungs, mediastinum, or retroperitoneum. These sources account for most of the cases described in the literature. Treatment should be individualized, and surgical consultation should be obtained in all cases. Conclusion. Although pneumoscrotum itself is a benign entity, the process by which air accumulates in the scrotum must be clarified, and treatment must target the primary cause.
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PMID:Pneumoscrotum as complication of blunt thoracic trauma: a case report. 2340 36

Poland's syndrome comprises a spectrum of chest-wall deformities affecting, to various degrees, the rib cage, the chest-wall muscles, neurovascular structures of the ipsilateral arm and the overlying breast. We present a neonate with features of depressed right chest-wall with no respiratory distress. Computed tomography showed hypolasia of the right pectoralis major muscle, with reduced subcutaneous fat on the ipsilateral side of the chest, with abnormalities of the ribs on the same side but absent upper limb deformities. There is negative history of other family members of being affected.
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PMID:Poland's Syndrome with Absent Limb Anomalies. 2474 41

Prone ventilation for refractory acute respiratory distress syndrome (ARDS) mandates free abdomen by rolls in between chest wall and pelvic bones for better ventilation and control of airway pressure. We observed that, in patients with severe ARDS, prone ventilation with movable free abdomen produced high plateau pressure reduced by applying simple support to abdominal wall. Here, we have proposed a possible hypothesis to explain the paradoxical event in this particular group of patients. The increased alveolar volume in prone position is counteracted by reduction in rib cage diameter caused by weight of abdomen. In patients with severe ARDS in prone position, gravitational pressure transmits through abdominal support, resulting in better chest wall expansion and leading to more oxygenation and opening of the alveoli in ventral lung along with the dorsal lung portion that is usually better ventilated in prone position. There is no clinical trial regarding this particular observation. We suggest randomized trials to prove our observational findings.
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PMID:Is abdomen release really necessary for prone ventilation in acute respiratory distress syndrome? 2476 37

Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. While such ciliopathies have been demonstrated to involve primary cilia defects, we show motile cilia dysfunction in the airway of a patient diagnosed with cranioectodermal dysplasia. While this patient had mild thoracic dystrophy not requiring surgical treatment, there was nevertheless newborn respiratory distress, restrictive airway disease with possible obstructive airway involvement, repeated respiratory infections, and atelectasis. High-resolution videomicroscopy of nasal epithelial biopsy showed immotile/dyskinetic cilia and nasal nitric oxide was reduced, both of which are characteristics of primary ciliary dyskinesia, a sinopulmonary disease associated with mucociliary clearance defects due to motile cilia dysfunction in the airway. Exome sequencing analysis of this patient identified compound heterozygous mutations in WDR35, but no mutations in any of the 30 known primary ciliary dyskinesia genes or other cilia-related genes. Given that WDR35 is only known to be required for primary cilia function, we carried out WDR35 siRNA knockdown in human respiratory epithelia to assess the role of WDR35 in motile cilia function. This showed WDR35 deficiency disrupted ciliogenesis in the airway, indicating WDR35 is also required for formation of motile cilia. Together, these findings suggest patients with WDR35 mutations have an airway mucociliary clearance defect masked by their restrictive airway disease.
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PMID:Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 2591 4


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